Publicacións en colaboración con investigadores/as de Fundación Pública Galega de Medicina Xenómica (103)

2024

  1. Bilateral Uveal Melanoma: An Insight into Genetic Predisposition in Four New Unrelated Patients and Review of Published Cases

    Journal of Clinical Medicine, Vol. 13, Núm. 11

  2. Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency

    BMC Pediatrics, Vol. 24, Núm. 1

  3. Meta-analysis of genome-wide association studies for cancer therapy-related cardiovascular dysfunction and functional mapping highlight an intergenic region close to TP63

    Scientific Reports, Vol. 14, Núm. 1

2023

  1. A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2

    Human Mutation, Vol. 2023

  2. BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis

    Gastroenterology, Vol. 165, Núm. 1, pp. 162-172.e5

  3. Comparing symptom reporting by prostate cancer patients and healthcare professionals in the international multicentre REQUITE study

    Radiotherapy and Oncology, Vol. 178

  4. Deletion of the CYP2D6 gene as a likely explanation for the serious side effects of the antipsychotic drug pimozide: a case report

    Frontiers in Pharmacology, Vol. 14

  5. ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

    Clinical cancer research : an official journal of the American Association for Cancer Research, Vol. 29, Núm. 16, pp. 3037-3050

  6. Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study

    Neurologia, Vol. 38, Núm. 6, pp. 379-386

  7. Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders

    Cytogenetic and genome research, Vol. 163, Núm. 5-6, pp. 301-306

  8. Genome-wide association study of treatment-related toxicity two years following radiotherapy for breast cancer

    Radiotherapy and Oncology, Vol. 187

  9. Influence of Genetic Polymorphisms on the Short-Term Response to Ranibizumab in Patients With Neovascular Age-Related Macular Degeneration

    Investigative ophthalmology & visual science, Vol. 64, Núm. 13, pp. 34

  10. Large-scale meta-genome-wide association study reveals common genetic factors linked to radiation-induced acute toxicities across cancer types

    JNCI Cancer Spectrum, Vol. 7, Núm. 6

  11. Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

    British Journal of Cancer, Vol. 128, Núm. 12, pp. 2283-2294

  12. Paediatric-onset generalized pustular psoriasis secondary to myeloperoxidase mutations

    Clinical and experimental dermatology, Vol. 48, Núm. 2, pp. 130-132

  13. Patient With Relapsing Polychondritis and Cutaneous Nodules Being Followed by the Hematology Department for a Myelodysplastic Syndrome

    Actas Dermo-Sifiliograficas

  14. Radiogenomics in lung cancer: Where are we?

    Lung Cancer, Vol. 176, pp. 56-74

  15. Two cases of familial glomuvenous malformation and description of a novel pathogenic mutation in glomulin gene (GLMN)

    International Journal of Dermatology

2022

  1. Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach

    Human Mutation, Vol. 43, Núm. 12, pp. 1921-1944

  2. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

    Communications biology, Vol. 5, Núm. 1, pp. 1061